Pulmonary atresia with ventricular septal defect

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).

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Narrow down the case reports

Total: 46 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
3 (4.0%)	26011192	Implantation of an Absorb bioresorbable vascular scaffold in the stenotic aortopulmonary collateral artery of a young child with Alagille syndrome. Castro Rodriguez J, Dessy H, Demanet H. Catheter Cardiovasc Interv. 2015;86(2):E76-80. [ Show abstract ] [ Hide abstract ]
		Aortopulmonary collateral arteries


		Absorbable Implants Alagille Syndrome Angioplasty, Balloon Arterial Occlusive Diseases Blood Vessel Prosthesis Implantation Collateral Circulation Drug-Eluting Stents Females Heart Septal Defects Homo sapiens Infant Prosthesis Design Pulmonary Circulation
3 (4.0%)	25952246	Artery fistula causing aortic regurgitation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. Furutake T, Koizumi J, Iwase T, Kamada T, Takahashi S, Oyama K, Okabayashi H, Ikai A. Ann Thorac Surg. 2015;99(5):e121-3. [ Show abstract ] [ Hide abstract ]
		Aortic regurgitation


		Aortic Valve Insufficiency Arterio-Arterial Fistula Collateral Circulation Coronary Artery Disease Heart Septal Defects Homo sapiens Infant Male
3 (4.0%)	24958054	Combined Rastelli and Bentall Procedures for Pulmonary Atresia With Ventricular Septal Defect and a Large Aortopulmonary Collateral Artery and Ascending Aorta Aneurysm. Chiostri B, Piccinini F, Vrancic M, Klinger D, Navia D, Lalor N, Longo F, Kreutzer C. World J Pediatr Congenit Heart Surg. 2014;5(3):467-9. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect


		Adult Aortic Aneurysm, Thoracic Collateral Circulation Heart Septal Defects Homo sapiens Male Radiography, Thoracic
3 (4.0%)	24771741	Infected pseudoaneurysm following a modified Blalock-Taussig shunt procedure. Nakai Y, Nomura N, Ukai T, Asano M, Mishima A. Asian Cardiovasc Thorac Ann. 2014;22(4):481-3. [ Show abstract ] [ Hide abstract ]
		Fever


		Aneurysm, Infected Anti-Bacterial Agents Blood Vessel Prosthesis Blood Vessel Prosthesis Implantation Child, Preschool Combined Modality Therapy Device Removal Heart Septal Defects Homo sapiens Male Pneumococcal Infections Pseudoaneurysm Repeat Surgery X-Ray Computed Tomography
3 (4.0%)	24570532	Pulmonary atresia with ventricular septal defect and pulmonary sequestration. Nakata T, Ikeda T, Doi H, Baba S, Sakata R. Asian Cardiovasc Thorac Ann. 2013;21(4):460-3. [ Show abstract ] [ Hide abstract ]
		Patent ductus arteriosus


		Blood Vessel Prosthesis Implantation Bronchopulmonary Sequestration Cardiopulmonary Bypass Females Heart Septal Defects Homo sapiens Infant, Newborn Multidetector Computed Tomography
3 (4.0%)	23423321 (3573166)	Hybrid procedure for pulmonary atresia with ventricular septal defect in a low birth weight neonate. Park JY, Seo DM, Shin HJ, Kim SJ, Son JS. Korean J Thorac Cardiovasc Surg. 2013;46(1):56-9. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect



3 (4.0%)	23199622	Management of patients with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals: Focus on the strategy of rehabilitation of the native pulmonary arteries. Fouilloux V, Bonello B, Kammache I, Fraisse A, Mace L, Kreitmann B. Arch Cardiovasc Dis. 2012;105(12):666-75. [ Show abstract ] [ Hide abstract ]
		Vascular dilatation


		Collateral Circulation Homo sapiens Infant Male Vascular Surgical Procedures Ventricular Septal Defects
3 (4.0%)	23143311	Isolated cleft mitral valve with severe regurgitation resulting in a left inferior pulmonary vein varix diagnosed from cardiovascular magnetic resonance imaging. Teo LL, Hia CP, Ling LH, Quek SC. Pediatr Cardiol. 2013;34(4):1055-6. [ Show abstract ] [ Hide abstract ]
		Mitral regurgitation


		Echocardiography, Three-Dimensional Homo sapiens Magnetic Resonance Imaging, Cine Male Mitral Valve Mitral Valve Insufficiency Ventricular Septal Defects
3 (4.0%)	22327230	Unusual differential diagnosis of common arterial trunk. Shah S, Kavya , Saraf R, Rao S. Pediatr Cardiol. 2012;33(7):1180-2. [ Show abstract ] [ Hide abstract ]
		Aortopulmonary window


		Differential Diagnosis Echocardiography Homo sapiens Infant, Newborn Male Truncus Arteriosus, Persistent
3 (4.0%)	19359994	Survival into sixth decade of untreated pulmonary atresia with ventricular septal defect and major aorto-pulmonary collaterals: a magnetic resonance imaging study. Ratti C, Grassi L, Ligabue G, Della Casa G, Barbieri A, Gavioli M, Bompani B. J Cardiovasc Med (Hagerstown). 2009;10(7):570-1. [ Show abstract ] [ Hide abstract ]
		Congestive heart failure


		Age Factors Collateral Circulation Homo sapiens Magnetic Resonance Angiography Magnetic Resonance Imaging, Cine Male Mammary Arteries Middle Aged Pulmonary Circulation Regional Blood Flow Ventricular Septal Defects

Phenotype(s) retrieved from Orphanet

Total: 0

HPO ID	Term	Frequency

Phenotype(s) retrieved from case reports

Total: 11

HPO ID	Term	# of case reports
HP:0031834	Aortopulmonary collateral arteries	10
HP:0000822	Hypertension	2
HP:0011641	Coronary artery fistula	2
HP:0025516	Coronary-pulmonary artery fistula	2
HP:0001635	Congestive heart failure	1
HP:0001643	Patent ductus arteriosus	1
HP:0001650	Aortic valve stenosis	1
HP:0001659	Aortic regurgitation	1
HP:0001945	Fever	1
HP:0011604	Aortopulmonary window	1
HP:0100632	Pulmonary sequestration	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID